Renal Histidinuria.
One patient with abnormal histidinuria and a normal plasma histidine concentration is presented. This patient had myoclonic seizures like another patient previously reported with histidinuria. The effect of a peroral histidine loading test was studied. The relationship between renal histidinuria and neurological abnormalities is discussed.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000652:urine*; D000596:Amino Acids / Q000097:blood / Q000652:urine; D002675:Child, Preschool; D006639:Histidine / Q000097:blood / Q000652:urine*; D006801:Humans; D007668:Kidney / Q000378:metabolism; D007684:Kidney Tubules / Q000378:metabolism; D008297:Male
D000596:Amino Acids; D006639:Histidine